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Mol Cell Biol. 2007 Nov;27(22):7765-70. Epub 2007 Sep 17.

Biochemical and functional characterization of germ line KRAS mutations.

Author information

1
Department of Pediatrics, University of California, 513 Parnassus Avenue, HSE 302, San Francisco, California 94143, USA.

Abstract

Germ line missense mutations in HRAS and KRAS and in genes encoding molecules that function up- or downstream of Ras in cellular signaling networks cause a group of related developmental disorders that includes Costello syndrome, Noonan syndrome, and cardiofaciocutaneous syndrome. We performed detailed biochemical and functional studies of three mutant K-Ras proteins (P34R, D153V, and F156L) found in individuals with Noonan syndrome and cardiofaciocutaneous syndrome. Mutant K-Ras proteins demonstrate a range of gain-of-function effects in different cell types, and biochemical analysis supports the idea that the intrinsic Ras guanosine nucleotide triphosphatase (GTPase) activity, the responsiveness of these proteins to GTPase-activating proteins, and guanine nucleotide dissociation all regulate developmental programs in vivo.

PMID:
17875937
PMCID:
PMC2169154
DOI:
10.1128/MCB.00965-07
[Indexed for MEDLINE]
Free PMC Article

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